Reviewed, UniProtKB/Swiss-Prot Q8TF21 (ANR24_HUMAN)

Names and origin

Protein names

Recommended name:
    Ankyrin repeat domain-containing protein 24

Gene names

Name:	ANKRD24
Synonyms:	KIAA1981

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1146 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Sequence similarities	Contains 5 ANK repeats.
Sequence caution	The sequence AAC33490.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence AAD15479.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	ANK repeat Coiled coil Repeat
Technical term	Complete proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8TF21-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q8TF21-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-41: MKTLRARFKK...PKPAARGRRQ → MQPAACAGEG...LCLCAAASFA

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1146	1146	Ankyrin repeat domain-containing protein 24		PRO_0000328836
Regions
	Repeat	81 – 110	30	ANK 1
	Repeat	114 – 143	30	ANK 2
	Repeat	147 – 176	30	ANK 3
	Repeat	180 – 209	30	ANK 4
	Repeat	213 – 242	30	ANK 5
	Coiled coil	320 – 517	198	Potential
	Coiled coil	714 – 1110	397	Potential
	Compositional bias	308 – 311	4	Poly-Pro
Natural variations
	Alternative sequence	1 – 41	41	MKTLR…RGRRQ → MQPAACAGEGAGPPAPRPPH PPGDKVRRGRGGAPSLSPQP PAPYLGLPIPSRGGGGWRGG QGGGGGTREGGTGRAGGAGS SGSAQPRPPAAPRGPSRPSG RRLLLEPRAPPAPRAPDAMK QLCLCAAASFA in isoform 2.		VSP_032811
	Natural variant	111	1	A → T: dbSNP rs2052191. Ref.2		VAR_042536
	Natural variant	349	1	R → Q: dbSNP rs12978469. Ref.2		VAR_042537
	Natural variant	585	1	E → K: dbSNP rs10413818. Ref.2		VAR_042538
	Natural variant	684	1	S → A: dbSNP rs353693. Ref.2		VAR_042539

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 8, 2008. Version 2. Checksum: 89E82EAD9056DCCB	FASTA	1,146	124,187
	10 20 30 40 50 60 MKTLRARFKK TELRLSPTDL GSCPPCGPCP IPKPAARGRR QSQDWGKSDE RLLQAVENND 70 80 90 100 110 120 APRVAALIAR KGLVPTKLDP EGKSAFHLAA MRGAASCLEV MIAHGSNVMS ADGAGYNALH 130 140 150 160 170 180 LAAKYGHPQC LKQLLQASCV VDVVDSSGWT ALHHAAAGGC LSCSEVLCSF KAHLNPQDRS 190 200 210 220 230 240 GATPLIIAAQ MCHTDLCRLL LQQGAAANDQ DLQGRTALML ACEGASPETV EVLLQGGAQP 250 260 270 280 290 300 GITDALGQDA AHYGALAGDK LILHLLQEAA QRPSPPSALT EDDSGEASSQ NSMSSHGKQG 310 320 330 340 350 360 APKKRKAPPP PASIPMPDDR DAYEEIVRLR QERGRLLQKI RGLEQHKERR QQESPEASSL 370 380 390 400 410 420 HILERQVQEL QQLLVERQEE KESLGREVES LQSRLSLLEN ERENTSYDVT TLQDEEGELP 430 440 450 460 470 480 DLPGAEVLLS RQLSPSAQEH LASLQEQVAV LTRQNQELME KVQILENFEK DETQMEVEAL 490 500 510 520 530 540 AEVIPLALYD SLRAEFDQLR RQHAEALQAL RQQETREVPR EEGAACGESE VAGATATKNG 550 560 570 580 590 600 PTHMELNGSV APETKVNGAE TIDEEAAGDE TMEARTMEAE ATGAEATGAE ATGAKVTETK 610 620 630 640 650 660 PTGAEVREME TTEEEANMET KPTGAQATDT ETTGVEAMGV EATKTKAEEA EMQAYGVGAG 670 680 690 700 710 720 QAEPPVTGTT NMEATGSRAT GMESTGVSAT GVENPGVEAT VPGISAGPIL HPGAAEASEK 730 740 750 760 770 780 LQVELETRIR GLEEALRQRE REAAAELEAA LGKCEAAEAE AGRLRERVRE AEGSGASGGG 790 800 810 820 830 840 GGDTTQLRAA LEQAREDLRD RDSRLRELEA ASACLDEARA SRLLAEEEAR GLRAELAQRE 850 860 870 880 890 900 EARLEQSREL EVLREQLATA RATGEQQRTA AAELGRARDA AEARVAELPA ACEEARQGLA 910 920 930 940 950 960 ELREASEALR QSVVPASEHR RLQEEALELR GRAASLEQEV VATGKEAARL RAELERERVC 970 980 990 1000 1010 1020 SVALSEHERI VGTLQANVAQ LEGQLEELGR RHEKTSAEVF QVQREALFMK SERHAAEAQL 1030 1040 1050 1060 1070 1080 ATAEQQLRGL RTEAERARQA QSRAQEALDK AKEKDKKITE LSKEVFNLKE ALKEQPAALA 1090 1100 1110 1120 1130 1140 TPEVEALRDQ VKDLQQQLQE AARDHSSVVA LYRSHLLYAI QGQMDEDVQR ILSQILQMQR LQAQGR
	Isoform 2. Checksum: 47CB3FA05D3CB79F	FASTA	1,236	132,379
	10 20 30 40 50 60 MQPAACAGEG AGPPAPRPPH PPGDKVRRGR GGAPSLSPQP PAPYLGLPIP SRGGGGWRGG 70 80 90 100 110 120 QGGGGGTREG GTGRAGGAGS SGSAQPRPPA APRGPSRPSG RRLLLEPRAP PAPRAPDAMK 130 140 150 160 170 180 QLCLCAAASF ASQDWGKSDE RLLQAVENND APRVAALIAR KGLVPTKLDP EGKSAFHLAA 190 200 210 220 230 240 MRGAASCLEV MIAHGSNVMS ADGAGYNALH LAAKYGHPQC LKQLLQASCV VDVVDSSGWT 250 260 270 280 290 300 ALHHAAAGGC LSCSEVLCSF KAHLNPQDRS GATPLIIAAQ MCHTDLCRLL LQQGAAANDQ 310 320 330 340 350 360 DLQGRTALML ACEGASPETV EVLLQGGAQP GITDALGQDA AHYGALAGDK LILHLLQEAA 370 380 390 400 410 420 QRPSPPSALT EDDSGEASSQ NSMSSHGKQG APKKRKAPPP PASIPMPDDR DAYEEIVRLR 430 440 450 460 470 480 QERGRLLQKI RGLEQHKERR QQESPEASSL HILERQVQEL QQLLVERQEE KESLGREVES 490 500 510 520 530 540 LQSRLSLLEN ERENTSYDVT TLQDEEGELP DLPGAEVLLS RQLSPSAQEH LASLQEQVAV 550 560 570 580 590 600 LTRQNQELME KVQILENFEK DETQMEVEAL AEVIPLALYD SLRAEFDQLR RQHAEALQAL 610 620 630 640 650 660 RQQETREVPR EEGAACGESE VAGATATKNG PTHMELNGSV APETKVNGAE TIDEEAAGDE 670 680 690 700 710 720 TMEARTMEAE ATGAEATGAE ATGAKVTETK PTGAEVREME TTEEEANMET KPTGAQATDT 730 740 750 760 770 780 ETTGVEAMGV EATKTKAEEA EMQAYGVGAG QAEPPVTGTT NMEATGSRAT GMESTGVSAT 790 800 810 820 830 840 GVENPGVEAT VPGISAGPIL HPGAAEASEK LQVELETRIR GLEEALRQRE REAAAELEAA 850 860 870 880 890 900 LGKCEAAEAE AGRLRERVRE AEGSGASGGG GGDTTQLRAA LEQAREDLRD RDSRLRELEA 910 920 930 940 950 960 ASACLDEARA SRLLAEEEAR GLRAELAQRE EARLEQSREL EVLREQLATA RATGEQQRTA 970 980 990 1000 1010 1020 AAELGRARDA AEARVAELPA ACEEARQGLA ELREASEALR QSVVPASEHR RLQEEALELR 1030 1040 1050 1060 1070 1080 GRAASLEQEV VATGKEAARL RAELERERVC SVALSEHERI VGTLQANVAQ LEGQLEELGR 1090 1100 1110 1120 1130 1140 RHEKTSAEVF QVQREALFMK SERHAAEAQL ATAEQQLRGL RTEAERARQA QSRAQEALDK 1150 1160 1170 1180 1190 1200 AKEKDKKITE LSKEVFNLKE ALKEQPAALA TPEVEALRDQ VKDLQQQLQE AARDHSSVVA 1210 1220 1230 LYRSHLLYAI QGQMDEDVQR ILSQILQMQR LQAQGR

References

[1]

"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed: 15057824] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

[2]

"Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins." Nagase T., Kikuno R., Ohara O. DNA Res. 8:319-327(2001) [PubMed: 11853319] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 100-872 (ISOFORM 2), VARIANTS THR-111; GLN-349; LYS-585 AND ALA-684. Tissue: Brain.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AC006930 Genomic DNA. Translation: AAD15479.1. Sequence problems. AC005578 Genomic DNA. Translation: AAC33490.1. Sequence problems. AB075861 mRNA. Translation: BAB85567.1.
IPI	IPI00291809. IPI00889539.
RefSeq	NP_597732.1.
UniGene	Hs.197872
3D structure databases
HSSP	HSSP built from PDB template 2B0O based on UniProtKB Q8TDY4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8TF21. 3 interactions.
PTM databases
PhosphoSite	Q8TF21.
Genome annotation databases
Ensembl	ENST00000318934; ENSP00000321731; ENSG00000089847; Homo sapiens. [Genome view]
GeneID	170961.
KEGG	hsa:170961.
UCSC	uc002lzs.2. human.
Organism-specific databases
CTD	170961.
GeneCards	GC19P004135.
HGNC	HGNC:29424. ANKRD24.
PharmGKB	PA134937612.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q8TF21.
OMA	AGGCISC
OrthoDB	EOG90GGB3
Gene expression databases
ArrayExpress	Q8TF21.
Bgee	Q8TF21.
CleanEx	HS_ANKRD24.
Genevestigator	Q8TF21.
Family and domain databases
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 1 hit.
Pfam	PF00023. Ank. 5 hits. [Graphical view]
SMART	SM00248. ANK. 5 hits. [Graphical view]
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 4 hits. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	89161.

Entry information

Entry name

ANR24_HUMAN

Accession

Primary (citable) accession number: Q8TF21
Secondary accession number(s): O75268, O95781

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 8, 2008
Last sequence update:	April 8, 2008
Last modified:	November 24, 2009
This is version 44 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.